Phenotype #0000171208

Individual ID 00225643
Associated disease PHA1B
Phenotype details Renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), high plasma renin activity (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 01y06m (1 year, 6 months)
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset Renal salt wasting (HP:0000127)
Protein -
Owner name Susan Tzotzos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Susan Tzotzos
Date created 2019-02-25 15:56:11 +01:00 (CET)
Date last edited 2019-02-27 15:36:13 +01:00 (CET)

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